Sms Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

165 records found for search term Sms

Refine Term:

Assembly:

Chr

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150503295	CV1241773	single nucleotide variant	NM_004595.5(SMS):c.-92A>G	not provided [RCV001657364]	benign	X	21940733	21940733	Human		name
151728645	CV1517552	single nucleotide variant	NM_004595.5(SMS):c.865+2T>C	Syndromic X-linked intellectual disability Snyder type [RCV002052168]	likely pathogenic	X	21984420	21984420	Human	1	name
10053023	CV195678	single nucleotide variant	NM_004595.5(SMS):c.661-5C>T	Inborn genetic diseases [RCV002372103]\|not provided [RCV000179891]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	21978872	21978872	Human	1	name
156062236	CV1975196	single nucleotide variant	NM_004595.5(SMS):c.265-9T>G	not provided [RCV002591016]	likely benign	X	21972498	21972498	Human		name
156241585	CV2286136	single nucleotide variant	NM_004595.5(SMS):c.264+3C>G	Inborn genetic diseases [RCV002854272]	uncertain significance	X	21971993	21971993	Human	1	name
8598737	CV26662	single nucleotide variant	NM_004595.5(SMS):c.329+5G>A	Syndromic X-linked intellectual disability Snyder type [RCV000012389]	pathogenic	X	21972576	21972576	Human	1	name
405289491	CV3218249	single nucleotide variant	NM_004595.5(SMS):c.661-1C>T	SMS-related disorder [RCV004544192]	likely pathogenic	X	21978876	21978876	Human		name , trait , alternate_id
408391291	CV3527950	single nucleotide variant	NM_004595.5(SMS):c.946-3T>G	not provided [RCV004775222]	uncertain significance	X	21992594	21992594	Human		name
596921756	CV3535382	single nucleotide variant	NM_004595.5(SMS):c.170+3G>C	Syndromic X-linked intellectual disability Snyder type [RCV004784937]	uncertain significance	X	21967319	21967319	Human	1	name
12833005	CV379284	single nucleotide variant	NM_004595.5(SMS):c.661-4G>T	not specified [RCV000417669]	likely benign	X	21978873	21978873	Human		name
598125604	CV3885837	single nucleotide variant	NM_004595.5(SMS):c.751-3A>G	not provided [RCV005241640]	uncertain significance	X	21984301	21984301	Human		name
13830795	CV580764	single nucleotide variant	NM_004595.5(SMS):c.505+3A>G	History of neurodevelopmental disorder [RCV000720966]\|not provided [RCV001302433]	uncertain significance	X	21977239	21977239	Human		name
150463285	CV1253782	single nucleotide variant	NM_004595.5(SMS):c.866-32T>C	Syndromic X-linked intellectual disability Snyder type [RCV001810214]\|not provided [RCV001669824]	benign	X	21985112	21985112	Human	1	name
150470121	CV1259772	single nucleotide variant	NM_004595.5(SMS):c.50-321G>A	not provided [RCV001684074]	benign	X	21966875	21966875	Human		name
150453728	CV1260558	single nucleotide variant	NM_004595.5(SMS):c.329+64G>A	not provided [RCV001681050]	benign	X	21972635	21972635	Human		name
150444555	CV1288039	single nucleotide variant	NM_004595.5(SMS):c.170+30C>T	Syndromic X-linked intellectual disability Snyder type [RCV001810298]\|not provided [RCV001725761]	benign	X	21967346	21967346	Human	1	name
155731745	CV1834937	single nucleotide variant	NM_004595.5(SMS):c.1061+4T>C	Inborn genetic diseases [RCV002407785]	uncertain significance	X	21992716	21992716	Human	1	name
155938558	CV2135215	duplication	NM_004595.5(SMS):c.865+12dup	not provided [RCV002993898]	benign	X	21984423	21984424	Human		name
243061319	CV2408832	single nucleotide variant	NM_004595.5(SMS):c.1061+2T>C	Syndromic X-linked intellectual disability Snyder type [RCV003138549]	uncertain significance	X	21992714	21992714	Human	1	name
401830089	CV2744089	single nucleotide variant	NM_004595.5(SMS):c.49+250C>A	not provided [RCV003327287]	likely benign	X	21941123	21941123	Human		name
401918754	CV2821347	single nucleotide variant	NM_004595.5(SMS):c.49+203G>A	not provided [RCV003430438]	likely benign	X	21941076	21941076	Human		name
405117998	CV2997361	single nucleotide variant	NM_004595.5(SMS):c.170+14A>G	not provided [RCV003723569]	likely benign	X	21967330	21967330	Human		name
408387559	CV3526064	single nucleotide variant	NM_004595.5(SMS):c.661-13A>C	Syndromic X-linked intellectual disability Snyder type [RCV004768450]	pathogenic	X	21978864	21978864	Human	1	name
597849934	CV3761735	single nucleotide variant	NM_004595.5(SMS):c.865+12T>C	not provided [RCV005087831]	benign	X	21984430	21984430	Human		name
41407061	CV983244	single nucleotide variant	NM_004595.5(SMS):c.330-10C>G	not provided [RCV001289229]	uncertain significance	X	21977051	21977051	Human		name
150339266	CV1167800	single nucleotide variant	NM_004595.5(SMS):c.329+151A>G	not provided [RCV001534121]	benign	X	21972722	21972722	Human		name
150331677	CV1169948	single nucleotide variant	NM_004595.5(SMS):c.750+201C>G	not provided [RCV001536576]	benign	X	21979167	21979167	Human		name
150514202	CV1210910	single nucleotide variant	NM_004595.5(SMS):c.265-170G>C	not provided [RCV001598953]	benign	X	21972337	21972337	Human		name
150511259	CV1212686	single nucleotide variant	NM_004595.5(SMS):c.329+175T>C	not provided [RCV001597917]	benign	X	21972746	21972746	Human		name
150484937	CV1222600	single nucleotide variant	NM_004595.5(SMS):c.329+153T>C	not provided [RCV001617603]	benign	X	21972724	21972724	Human		name
150508918	CV1229762	single nucleotide variant	NM_004595.5(SMS):c.865+320G>A	not provided [RCV001636341]	benign	X	21984738	21984738	Human		name
150498397	CV1235559	single nucleotide variant	NM_004595.5(SMS):c.171-162C>A	not provided [RCV001656242]	benign	X	21971735	21971735	Human		name
150497598	CV1236387	single nucleotide variant	NM_004595.5(SMS):c.865+175A>G	not provided [RCV001656112]	benign	X	21984593	21984593	Human		name
150509891	CV1248410	single nucleotide variant	NM_004595.5(SMS):c.330-211C>T	not provided [RCV001659478]	benign	X	21976850	21976850	Human		name
150461975	CV1264671	duplication	NM_004595.5(SMS):c.750+233dup	not provided [RCV001682295]	benign	X	21979188	21979189	Human		name
150448523	CV1270473	single nucleotide variant	NM_004595.5(SMS):c.329+177A>G	not provided [RCV001691611]	benign	X	21972748	21972748	Human		name
150462257	CV1272985	single nucleotide variant	NM_004595.5(SMS):c.170+302A>C	not provided [RCV001693742]	benign	X	21967618	21967618	Human		name
150444568	CV1288041	single nucleotide variant	NM_004595.5(SMS):c.170+109C>A	not provided [RCV001725763]	benign	X	21967425	21967425	Human		name
152980647	CV1676038	single nucleotide variant	NM_004595.5(SMS):c.264+105A>G	not provided [RCV002245107]	likely benign	X	21972095	21972095	Human		name
156321458	CV2057128	single nucleotide variant	NM_004595.5(SMS):c.1062-19T>A	not provided [RCV002810101]	likely benign	X	21994293	21994293	Human		name
405120425	CV3131481	single nucleotide variant	NM_004595.5(SMS):c.1061+14G>A	not provided [RCV003837345]	benign	X	21992726	21992726	Human		name
155795985	CV1861587	microsatellite	NM_004595.5(SMS):c.50-139TTTA[8]	not provided [RCV002469870]	likely benign	X	21967057	21967060	Human		name
150444563	CV1288040	microsatellite	NM_004595.5(SMS):c.50-139TTTA[10]	not provided [RCV001725762]	benign	X	21967056	21967057	Human		name
150333240	CV1169947	deletion	NM_004595.5(SMS):c.50-108_50-89del	not provided [RCV001537228]	benign	X	21967074	21967093	Human		name
150486023	CV1262214	deletion	NM_004595.5(SMS):c.50-103_50-96del	not provided [RCV001686905]	benign	X	21967086	21967093	Human		name
150471315	CV1259090	deletion	NM_004595.5(SMS):c.50-103_50-100del	not provided [RCV001684335]	benign	X	21967090	21967093	Human		name
155738419	CV1797897	single nucleotide variant	NM_004595.5(SMS):c.42C>T (p.Gly14=)	Inborn genetic diseases [RCV002331865]\|SMS-related disorder [RCV004725232]	likely benign	X	21940866	21940866	Human	2	name , trait , alternate_id
15099592	CV786781	single nucleotide variant	NM_004595.5(SMS):c.45C>G (p.Ala15=)	not provided [RCV000975280]	likely benign	X	21940869	21940869	Human		name
15103467	CV786782	single nucleotide variant	NM_004595.5(SMS):c.63C>T (p.Thr21=)	not provided [RCV000976024]	benign	X	21967209	21967209	Human		name
21070423	CV798256	single nucleotide variant	NM_004595.5(SMS):c.3G>A (p.Met1Ile)	not provided [RCV000999350]	uncertain significance	X	21940827	21940827	Human		name
401920675	CV2804019	single nucleotide variant	NM_004595.5(SMS):c.13C>T (p.Arg5Trp)	SMS-related disorder [RCV004531723]	uncertain significance	X	21940837	21940837	Human		name , trait , alternate_id
597946509	CV3841672	single nucleotide variant	NM_004595.5(SMS):c.108G>A (p.Ala36=)	not provided [RCV005189105]	benign	X	21967254	21967254	Human		name
598123275	CV3890273	single nucleotide variant	NM_004595.5(SMS):c.25C>G (p.Leu9Val)	not provided [RCV005250792]	uncertain significance	X	21940849	21940849	Human		name
13829817	CV581066	single nucleotide variant	NM_004595.5(SMS):c.114G>A (p.Ser38=)	Inborn genetic diseases [RCV002318121]\|Syndromic X-linked intellectual disability Snyder type [RCV002507258]\|not provided [RCV000934691]	likely benign	X	21967260	21967260	Human	2	name
15157436	CV743278	single nucleotide variant	NM_004595.5(SMS):c.171C>T (p.Ser57=)	Inborn genetic diseases [RCV002399993]\|not provided [RCV000902528]	benign	X	21971897	21971897	Human	1	name
28889460	CV903651	single nucleotide variant	NM_004595.5(SMS):c.13C>G (p.Arg5Gly)	Syndromic X-linked intellectual disability Snyder type [RCV001169877]	uncertain significance	X	21940837	21940837	Human	1	name
155664263	CV1785968	single nucleotide variant	NM_004595.5(SMS):c.339C>T (p.Pro113=)	Inborn genetic diseases [RCV002451990]	likely benign	X	21977070	21977070	Human	1	name
155697451	CV1800958	single nucleotide variant	NM_004595.5(SMS):c.603C>T (p.Asp201=)	Inborn genetic diseases [RCV002358216]	likely benign	X	21978057	21978057	Human	1	name
155689409	CV1803989	single nucleotide variant	NM_004595.5(SMS):c.597T>G (p.Gly199=)	Inborn genetic diseases [RCV002356143]	likely benign	X	21978051	21978051	Human	1	name
155744762	CV1820618	single nucleotide variant	NM_004595.5(SMS):c.852G>A (p.Thr284=)	Inborn genetic diseases [RCV002414431]\|SMS-related disorder [RCV004736166]	likely benign	X	21984405	21984405	Human	2	name , trait , alternate_id
155742551	CV1823725	single nucleotide variant	NM_004595.5(SMS):c.804A>G (p.Arg268=)	Inborn genetic diseases [RCV002412444]	likely benign	X	21984357	21984357	Human	1	name
155705234	CV1824102	single nucleotide variant	NM_004595.5(SMS):c.843A>G (p.Pro281=)	Inborn genetic diseases [RCV002445927]\|not provided [RCV005097237]	benign	X	21984396	21984396	Human	1	name
10049714	CV190837	single nucleotide variant	NM_004595.5(SMS):c.978G>A (p.Ser326=)	Inborn genetic diseases [RCV002316997]\|not provided [RCV000173806]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	21992629	21992629	Human	1	name
10403516	CV209000	single nucleotide variant	NM_004595.5(SMS):c.330A>G (p.Arg110=)	not specified [RCV000192724]	uncertain significance	X	21977061	21977061	Human		name
10404081	CV209001	single nucleotide variant	NM_004595.5(SMS):c.714C>T (p.Gly238=)	Inborn genetic diseases [RCV002315507]\|not specified [RCV000194134]	likely benign\|uncertain significance	X	21978930	21978930	Human	1	name
401918756	CV2821348	single nucleotide variant	NM_004595.5(SMS):c.381C>T (p.Ala127=)	not provided [RCV003430439]	likely benign	X	21977112	21977112	Human		name
405181345	CV3057312	single nucleotide variant	NM_004595.5(SMS):c.426C>T (p.Asp142=)	not provided [RCV003728807]	benign	X	21977157	21977157	Human		name
405260936	CV3185982	single nucleotide variant	NM_004595.5(SMS):c.40G>C (p.Gly14Arg)	not provided [RCV003885058]	uncertain significance	X	21940864	21940864	Human		name
405283295	CV3191321	single nucleotide variant	NM_004595.5(SMS):c.966A>C (p.Thr322=)	SMS-related disorder [RCV004539309]	likely benign	X	21992617	21992617	Human		name , trait , alternate_id
405277614	CV3195935	single nucleotide variant	NM_004595.5(SMS):c.936T>C (p.Tyr312=)	SMS-related disorder [RCV004537093]	likely benign	X	21985214	21985214	Human		name , trait , alternate_id
405871951	CV3398156	single nucleotide variant	NM_004595.5(SMS):c.369C>T (p.Tyr123=)	not provided [RCV004575157]	likely benign	X	21977100	21977100	Human		name
408392248	CV3528055	single nucleotide variant	NM_004595.5(SMS):c.85A>G (p.Ile29Val)	not provided [RCV004775823]	uncertain significance	X	21967231	21967231	Human		name
598170450	CV3915219	single nucleotide variant	NM_004595.5(SMS):c.86T>C (p.Ile29Thr)	Inborn genetic diseases [RCV005284602]	uncertain significance	X	21967232	21967232	Human	1	name
13829376	CV580767	single nucleotide variant	NM_004595.5(SMS):c.789C>T (p.Tyr263=)	Inborn genetic diseases [RCV002313671]	likely benign	X	21984342	21984342	Human	1	name
13830821	CV581067	single nucleotide variant	NM_004595.5(SMS):c.561A>G (p.Glu187=)	Inborn genetic diseases [RCV002318881]\|SMS-related disorder [RCV004540026]\|not provided [RCV000918745]	benign\|likely benign	X	21978015	21978015	Human	2	name , trait , alternate_id
8642069	CV101053	single nucleotide variant	NM_004595.5(SMS):c.104T>A (p.Met35Lys)	not provided [RCV000081159]	uncertain significance	X	21967250	21967250	Human		name
150406290	CV1200220	single nucleotide variant	NM_004595.5(SMS):c.152A>G (p.Tyr51Cys)	Syndromic X-linked intellectual disability Snyder type [RCV001580277]\|not provided [RCV001773773]	likely pathogenic\|uncertain significance	X	21967298	21967298	Human	1	name
153301947	CV1689376	single nucleotide variant	NM_004595.5(SMS):c.136G>A (p.Gly46Ser)	not provided [RCV002267326]	uncertain significance	X	21967282	21967282	Human		name
10047663	CV190838	single nucleotide variant	NM_004595.5(SMS):c.1026A>C (p.Ser342=)	Inborn genetic diseases [RCV002313027]\|SMS-related disorder [RCV004535190]\|Syndromic X-linked intellectual disability Snyder type [RCV000601014]\|not provided [RCV000889845]\|not specified [RCV000173807]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	21992677	21992677	Human	2	name , trait , alternate_id
155983572	CV2367788	single nucleotide variant	NM_004595.5(SMS):c.107C>T (p.Ala36Val)	Inborn genetic diseases [RCV002688593]	likely benign	X	21967253	21967253	Human	1	name
243061316	CV2408829	single nucleotide variant	NM_004595.5(SMS):c.113C>T (p.Ser38Leu)	Syndromic X-linked intellectual disability Snyder type [RCV003138546]	uncertain significance	X	21967259	21967259	Human	1	name
243061317	CV2408830	single nucleotide variant	NM_004595.5(SMS):c.289A>G (p.Met97Val)	Syndromic X-linked intellectual disability Snyder type [RCV003138547]	uncertain significance	X	21972531	21972531	Human	1	name
243061320	CV2408833	single nucleotide variant	NM_004595.5(SMS):c.261C>G (p.Asp87Glu)	Syndromic X-linked intellectual disability Snyder type [RCV003138550]	uncertain significance	X	21971987	21971987	Human	1	name
8598738	CV26663	single nucleotide variant	NM_004595.5(SMS):c.166G>A (p.Gly56Ser)	Inborn genetic diseases [RCV000210586]\|Syndromic X-linked intellectual disability Snyder type [RCV000012390]\|not provided [RCV000414369]	pathogenic\|likely pathogenic	X	21967312	21967312	Human	2	name
401922964	CV2796570	single nucleotide variant	NM_004595.5(SMS):c.200G>T (p.Gly67Val)	SMS-related disorder [RCV004527931]	likely pathogenic\|uncertain significance	X	21971926	21971926	Human		name , trait , alternate_id
401934965	CV2800895	single nucleotide variant	NM_004595.5(SMS):c.111G>T (p.Glu37Asp)	SMS-related disorder [RCV004529836]	uncertain significance	X	21967257	21967257	Human		name , trait , alternate_id
401913253	CV2830284	single nucleotide variant	NM_004595.5(SMS):c.238G>A (p.Ala80Thr)	not provided [RCV003441499]	uncertain significance	X	21971964	21971964	Human		name
401914455	CV2830704	single nucleotide variant	NM_004595.5(SMS):c.182T>C (p.Leu61Ser)	not provided [RCV003442442]	uncertain significance	X	21971908	21971908	Human		name
405270742	CV3212116	single nucleotide variant	NM_004595.5(SMS):c.1020A>G (p.Glu340=)	SMS-related disorder [RCV004543936]	likely benign	X	21992671	21992671	Human		name , trait , alternate_id
405853173	CV3393606	single nucleotide variant	NM_004595.5(SMS):c.1044C>A (p.Val348=)	not provided [RCV004546336]	likely benign	X	21992695	21992695	Human		name
407453623	CV3416363	single nucleotide variant	NM_004595.5(SMS):c.233G>C (p.Gly78Ala)	not provided [RCV004597621]	uncertain significance	X	21971959	21971959	Human		name
597878450	CV3763266	single nucleotide variant	NM_004595.5(SMS):c.160A>G (p.Lys54Glu)	not provided [RCV005108861]	uncertain significance	X	21967306	21967306	Human		name
616937677	CV4014849	single nucleotide variant	NM_004595.5(SMS):c.161A>G (p.Lys54Arg)	not provided [RCV005411865]	uncertain significance	X	21967307	21967307	Human		name
8621828	CV76584	single nucleotide variant	NM_004595.5(SMS):c.174T>A (p.Phe58Leu)	Syndromic X-linked intellectual disability Snyder type [RCV000055902]	pathogenic\|not provided	X	21971900	21971900	Human	1	name
8621829	CV76585	single nucleotide variant	NM_004595.5(SMS):c.200G>A (p.Gly67Glu)	Syndromic X-linked intellectual disability Snyder type [RCV000055903]\|not provided [RCV003221798]	pathogenic	X	21971926	21971926	Human	1	name
126737010	CV1001254	single nucleotide variant	NM_004595.5(SMS):c.350G>T (p.Gly117Val)	not provided [RCV001311824]	likely pathogenic	X	21977081	21977081	Human		name
150334706	CV1166445	single nucleotide variant	NM_004595.5(SMS):c.335C>T (p.Pro112Leu)	Inborn genetic diseases [RCV002568187]\|Syndromic X-linked intellectual disability Snyder type [RCV004579577]\|not provided [RCV001531137]	pathogenic\|uncertain significance	X	21977066	21977066	Human	2	name
150334708	CV1166446	single nucleotide variant	NM_004595.5(SMS):c.535C>T (p.Arg179Trp)	not provided [RCV001531138]	uncertain significance	X	21977989	21977989	Human		name
150533195	CV1294118	single nucleotide variant	NM_004595.5(SMS):c.625G>C (p.Val209Leu)	not provided [RCV001758136]	uncertain significance	X	21978079	21978079	Human		name
150554413	CV1295847	single nucleotide variant	NM_004595.5(SMS):c.979C>A (p.Leu327Ile)	not provided [RCV001771078]	uncertain significance	X	21992630	21992630	Human		name
151352210	CV1322314	single nucleotide variant	NM_004595.5(SMS):c.997G>C (p.Gly333Arg)	Inborn genetic diseases [RCV002386572]\|Syndromic X-linked intellectual disability Snyder type [RCV002478035]\|not provided [RCV001806937]	uncertain significance	X	21992648	21992648	Human	2	name
151662874	CV1333511	single nucleotide variant	NM_004595.5(SMS):c.746A>G (p.Tyr249Cys)	not provided [RCV001837703]	uncertain significance	X	21978962	21978962	Human		name
151716985	CV1334817	single nucleotide variant	NM_004595.5(SMS):c.319C>T (p.Arg107Trp)	Developmental disorder [RCV001843773]	uncertain significance	X	21972561	21972561	Human	1	name
151864135	CV1336785	single nucleotide variant	NM_004595.5(SMS):c.329G>A (p.Arg110Gln)	Syndromic X-linked intellectual disability Snyder type [RCV002243469]\|not provided [RCV002034826]	pathogenic\|uncertain significance	X	21972571	21972571	Human	1	name
151814026	CV1382280	single nucleotide variant	NM_004595.5(SMS):c.505A>G (p.Asn169Asp)	not provided [RCV001992106]	uncertain significance	X	21977236	21977236	Human		name
153301789	CV1687932	single nucleotide variant	NM_004595.5(SMS):c.875G>T (p.Trp292Leu)	not provided [RCV002265158]	likely pathogenic\|uncertain significance	X	21985153	21985153	Human		name
155645508	CV1708956	single nucleotide variant	NM_004595.5(SMS):c.742T>G (p.Cys248Gly)	not provided [RCV002291832]	uncertain significance	X	21978958	21978958	Human		name
155730140	CV1819817	single nucleotide variant	NM_004595.5(SMS):c.773C>T (p.Pro258Leu)	Inborn genetic diseases [RCV002400765]	uncertain significance	X	21984326	21984326	Human	1	name
155800831	CV1863835	single nucleotide variant	NM_004595.5(SMS):c.698T>C (p.Met233Thr)	not provided [RCV002474258]	uncertain significance	X	21978914	21978914	Human		name
155961999	CV1936580	single nucleotide variant	NM_004595.5(SMS):c.697A>G (p.Met233Val)	not provided [RCV002512399]	likely pathogenic	X	21978913	21978913	Human		name
10048996	CV195338	single nucleotide variant	NM_004595.5(SMS):c.569C>T (p.Thr190Ile)	Inborn genetic diseases [RCV002314661]\|not provided [RCV000930025]\|not specified [RCV000179446]	benign\|likely benign	X	21978023	21978023	Human	1	name
10053022	CV195677	single nucleotide variant	NM_004595.5(SMS):c.699G>A (p.Met233Ile)	not provided [RCV000179890]	uncertain significance	X	21978915	21978915	Human		name
155944683	CV2237837	single nucleotide variant	NM_004595.5(SMS):c.700C>T (p.Arg234Ter)	Inborn genetic diseases [RCV002752361]\|Syndromic X-linked intellectual disability Snyder type [RCV003333236]	pathogenic\|likely pathogenic	X	21978916	21978916	Human	2	name
243051367	CV2403931	single nucleotide variant	NM_004595.5(SMS):c.685T>G (p.Cys229Gly)	not provided [RCV003128901]	uncertain significance	X	21978901	21978901	Human		name
243052978	CV2418064	single nucleotide variant	NM_004595.5(SMS):c.335C>A (p.Pro112Gln)	Syndromic X-linked intellectual disability Snyder type [RCV003153129]	likely pathogenic\|uncertain significance	X	21977066	21977066	Human	1	name
329375461	CV2468616	single nucleotide variant	NM_004595.5(SMS):c.564T>G (p.Asp188Glu)	Inborn genetic diseases [RCV003211164]	uncertain significance	X	21978018	21978018	Human	1	name
329848680	CV2523428	single nucleotide variant	NM_004595.5(SMS):c.382G>A (p.Asp128Asn)	not provided [RCV003225442]	uncertain significance	X	21977113	21977113	Human		name
329848883	CV2523634	single nucleotide variant	NM_004595.5(SMS):c.674T>C (p.Val225Ala)	Syndromic X-linked intellectual disability Snyder type [RCV003225648]	likely pathogenic	X	21978890	21978890	Human	1	name
8598739	CV26664	single nucleotide variant	NM_004595.5(SMS):c.395T>G (p.Val132Gly)	Syndromic X-linked intellectual disability Snyder type [RCV000012391]	pathogenic	X	21977126	21977126	Human	1	name
329954297	CV2669505	single nucleotide variant	NM_004595.5(SMS):c.874T>C (p.Trp292Arg)	not provided [RCV003232013]	uncertain significance	X	21985152	21985152	Human		name
401799272	CV2741851	single nucleotide variant	NM_004595.5(SMS):c.735A>T (p.Lys245Asn)	not provided [RCV003323259]	uncertain significance	X	21978951	21978951	Human		name
401856975	CV2759904	single nucleotide variant	NM_004595.5(SMS):c.741C>G (p.Asp247Glu)	Inborn genetic diseases [RCV003356445]	uncertain significance	X	21978957	21978957	Human	1	name
401913852	CV2799139	single nucleotide variant	NM_004595.5(SMS):c.758T>G (p.Ile253Arg)	SMS-related disorder [RCV004531650]	uncertain significance	X	21984311	21984311	Human		name , trait , alternate_id
401931792	CV2801767	single nucleotide variant	NM_004595.5(SMS):c.620A>C (p.Glu207Ala)	SMS-related disorder [RCV004529293]	uncertain significance	X	21978074	21978074	Human		name , trait , alternate_id
405197006	CV2976175	single nucleotide variant	NM_004595.5(SMS):c.790G>T (p.Ala264Ser)	not provided [RCV003677772]	uncertain significance	X	21984343	21984343	Human		name
405262741	CV3185026	single nucleotide variant	NM_004595.5(SMS):c.977C>T (p.Ser326Leu)	not provided [RCV003885590]	uncertain significance	X	21992628	21992628	Human		name
405713173	CV3325954	single nucleotide variant	NM_004595.5(SMS):c.301A>G (p.Ser101Gly)	Inborn genetic diseases [RCV004462097]	likely benign	X	21972543	21972543	Human	1	name
405873089	CV3398392	single nucleotide variant	NM_004595.5(SMS):c.727A>G (p.Asn243Asp)	not provided [RCV004575888]	uncertain significance	X	21978943	21978943	Human		name
408377464	CV3501587	single nucleotide variant	NM_004595.5(SMS):c.923A>G (p.Gln308Arg)	not provided [RCV004727645]	uncertain significance	X	21985201	21985201	Human		name
408370069	CV3502988	single nucleotide variant	NM_004595.5(SMS):c.946G>A (p.Gly316Arg)	not provided [RCV004724109]	uncertain significance	X	21992597	21992597	Human		name
408386411	CV3522507	single nucleotide variant	NM_004595.5(SMS):c.673G>C (p.Val225Leu)	not provided [RCV004767867]	uncertain significance	X	21978889	21978889	Human		name
408391283	CV3523134	duplication	NM_004595.5(SMS):c.1037dup (p.Cys347fs)	not provided [RCV004770506]	uncertain significance	X	21992687	21992688	Human		name
408392549	CV3528172	single nucleotide variant	NM_004595.5(SMS):c.644T>C (p.Met215Thr)	not provided [RCV004775940]	uncertain significance	X	21978098	21978098	Human		name
596931037	CV3529879	single nucleotide variant	NM_004595.5(SMS):c.310A>T (p.Ser104Cys)	not provided [RCV004780929]	uncertain significance	X	21972552	21972552	Human		name
598223032	CV3892218	single nucleotide variant	NM_004595.5(SMS):c.857C>T (p.Pro286Leu)	Syndromic X-linked intellectual disability Snyder type [RCV005253557]	uncertain significance	X	21984410	21984410	Human	1	name
616935665	CV4016176	single nucleotide variant	NM_004595.5(SMS):c.637C>T (p.Pro213Ser)	not provided [RCV005415042]	uncertain significance	X	21978091	21978091	Human		name
12893942	CV411257	single nucleotide variant	NM_004595.5(SMS):c.831G>T (p.Leu277Phe)	not provided [RCV000480904]	likely pathogenic	X	21984384	21984384	Human		name
13442640	CV434693	single nucleotide variant	NM_004595.5(SMS):c.665A>T (p.Asp222Val)	SMS-related disorder [RCV000509103]\|not provided [RCV000522772]	likely pathogenic\|not provided	X	21978881	21978881	Human	1	name , trait , alternate_id
13530278	CV512642	single nucleotide variant	NM_004595.5(SMS):c.638C>A (p.Pro213Gln)	Inborn genetic diseases [RCV000622379]	likely pathogenic\|uncertain significance	X	21978092	21978092	Human	1	name
13828919	CV580928	single nucleotide variant	NM_004595.5(SMS):c.820A>G (p.Ile274Val)	Inborn genetic diseases [RCV002316156]	uncertain significance	X	21984373	21984373	Human	1	name
14395677	CV611446	single nucleotide variant	NM_004595.5(SMS):c.581T>G (p.Val194Gly)	Smith-Magenis syndrome [RCV000760247]	likely pathogenic	X	21978035	21978035	Human	1	name
8621830	CV76587	single nucleotide variant	NM_004595.5(SMS):c.443A>G (p.Gln148Arg)	Syndromic X-linked intellectual disability Snyder type [RCV000055905]	pathogenic	X	21977174	21977174	Human	1	name
8621831	CV76588	single nucleotide variant	NM_004595.5(SMS):c.449T>C (p.Ile150Thr)	Snyder Robinson syndrome [RCV000055906]	pathogenic	X	21977180	21977180	Human		name
8621832	CV76589	single nucleotide variant	NM_004595.5(SMS):c.983A>C (p.Tyr328Ser)	Snyder Robinson syndrome [RCV000055907]	pathogenic	X	21992634	21992634	Human		name
21068842	CV788951	single nucleotide variant	NM_004595.5(SMS):c.799G>A (p.Gly267Arg)	Syndromic X-linked intellectual disability Snyder type [RCV000985012]	uncertain significance	X	21984352	21984352	Human	1	name
25316812	CV804834	single nucleotide variant	NM_004595.5(SMS):c.388C>T (p.Arg130Cys)	Syndromic X-linked intellectual disability Snyder type [RCV001007564]	pathogenic	X	21977119	21977119	Human	1	name
39456188	CV815959	single nucleotide variant	NM_004595.5(SMS):c.608G>A (p.Gly203Asp)	Syndromic X-linked intellectual disability Snyder type [RCV001255181]	pathogenic	X	21978062	21978062	Human	1	name
26916880	CV849885	single nucleotide variant	NM_004595.5(SMS):c.844A>G (p.Ile282Val)	not provided [RCV001041036]	uncertain significance	X	21984397	21984397	Human		name
34890274	CV904253	single nucleotide variant	NM_004595.5(SMS):c.410A>G (p.Asp137Gly)	Syndromic X-linked intellectual disability Snyder type [RCV001171510]	likely pathogenic	X	21977141	21977141	Human	1	name
38461823	CV920008	single nucleotide variant	NM_004595.5(SMS):c.872C>A (p.Thr291Lys)	Syndromic X-linked intellectual disability Snyder type [RCV001197950]\|not provided [RCV003770213]	uncertain significance	X	21985150	21985150	Human	1	name
8639022	CV94346	single nucleotide variant	NM_004595.5(SMS):c.983A>G (p.Tyr328Cys)	Syndromic X-linked intellectual disability Snyder type [RCV000074415]	pathogenic	X	21992634	21992634	Human	1	name
38464131	CV961419	single nucleotide variant	NM_004595.5(SMS):c.905C>T (p.Ser302Leu)	Intellectual disability [RCV001249470]	pathogenic	X	21985183	21985183	Human	2	name
38465396	CV961816	single nucleotide variant	NM_004595.5(SMS):c.328C>G (p.Arg110Gly)	Syndromic X-linked intellectual disability Snyder type [RCV001250132]	likely pathogenic	X	21972570	21972570	Human	1	name
126730127	CV969716	single nucleotide variant	NM_004595.5(SMS):c.587T>C (p.Ile196Thr)	Syndromic X-linked intellectual disability Snyder type [RCV001310252]	likely pathogenic	X	21978041	21978041	Human	1	name
126739825	CV1018971	single nucleotide variant	NM_004595.5(SMS):c.1019A>G (p.Glu340Gly)	Inborn genetic diseases [RCV002368110]\|Syndromic X-linked intellectual disability Snyder type [RCV001329289]	likely benign\|uncertain significance	X	21992670	21992670	Human	2	name
150422766	CV1182093	single nucleotide variant	NM_004595.5(SMS):c.1045C>A (p.Pro349Thr)	not provided [RCV001553087]	likely pathogenic	X	21992696	21992696	Human		name
150428015	CV1189079	single nucleotide variant	NM_004595.5(SMS):c.1033A>G (p.Ile345Val)	not provided [RCV001561696]	uncertain significance	X	21992684	21992684	Human		name
155710724	CV1841596	single nucleotide variant	NM_004595.5(SMS):c.1096C>T (p.Pro366Ser)	Inborn genetic diseases [RCV002430666]	uncertain significance	X	21994346	21994346	Human	1	name
401914207	CV2830624	single nucleotide variant	NM_004595.5(SMS):c.1081T>C (p.Trp361Arg)	not provided [RCV003442362]	uncertain significance	X	21994331	21994331	Human		name
597886697	CV3741860	single nucleotide variant	NM_004595.5(SMS):c.1001G>A (p.Arg334His)	not provided [RCV005070580]	benign	X	21992652	21992652	Human		name
597933810	CV3742741	single nucleotide variant	NM_004595.5(SMS):c.1093A>C (p.Lys365Gln)	not provided [RCV005076180]	uncertain significance	X	21994343	21994343	Human		name
597935050	CV3863600	single nucleotide variant	NM_004595.5(SMS):c.1012C>T (p.Pro338Ser)	not provided [RCV005207413]	uncertain significance	X	21992663	21992663	Human		name
15015396	CV615269	deletion	NM_004595.5(SMS):c.908_911del (p.Met303fs)	Syndromic X-linked intellectual disability Snyder type [RCV000853623]	pathogenic	X	21985184	21985187	Human	1	name
405745328	CV3226261	deletion	NM_004595.5(SMS):c.641_643del (p.Lys214del)	Syndromic X-linked intellectual disability Snyder type [RCV003991252]	uncertain significance	X	21978094	21978096	Human	1	name
150543173	CV1309351	deletion	NM_004595.5(SMS):c.1098del (p.Ter367GluextTer?)	not provided [RCV003238423]	uncertain significance	X	21994346	21994346	Human		name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message